Autism Genetics: Emerging Data from Genome-wide Copy-number and Single Nucleotide Polymorphism Scans
severe motor retardation 15q11–q13 duplication syndrome (maternal duplication) Autism, MR/DD, seizures Hypotonia, motor delay 22q11.2 1.5–3 Mb DiGeorge/Velo–cardio–facial syndrome ...
Genetics is the branch of science concerned with genes, heredity, and variation in living organisms. It seeks to understand the process of trait inheritance from parents to offspring, including ...
A study involving 14% of the people in Greenland makes a case for including under-represented groups in population genomics data — which could reduce inequalities in genetics-based clinical care ...
Molecular Biology is the field of biology that studies the composition, structure and interactions of cellular molecules such as nucleic acids and proteins that carry out the biological ...
Both conditions are linked to changes in the 15q11-q13 chromosomal region, and Levine’s team is studying how these genetic mutations affect neuronal behavior and development. What makes the ...
Feb. 6, 2025 — Despite new medication, cystic fibrosis often leads to permanent lung damage. Researchers have discovered that the disease causes changes in the immune system early in life ...
Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3 ...
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